Human Phenotype Ontology 
Grandparent Node:
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Abnormal eye physiology (HP:0012373)help
Parent Node:
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Abnormal pupillary function (HP:0007686)help
..Starting node
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Abnormal pupillary light reflex (HP:0007695)help
Term ID: 7695
Name: Abnormal pupillary light reflex
Synonym:
Definition: An abnormality of the reflex that controls the diameter of the pupil, in response to the intensity of light that falls on the retina of the eye.
Comments:
Reference: HP:0007695
Genes and Diseases:
 
       Child Nodes:
........expandSlow pupillary light response (HP:0030211) help

 Sister Nodes: 
..expandMiosis (HP:0000616) help
..expandMydriasis (HP:0011499) help
..expandTonic pupil (HP:0012074) help
InputHPO IDHPO termDistanceGeneGene id entrezHGNC IDDiseaseIdDiseaseNameFrequencyOnsetHGMD variantsClinVar variants
 
HPO disease - gene - phenotype typical associations:
 
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0007695HP:0007695Abnormal pupillary light reflex0ATF6 CL E G H22926791ORPHA:49382AchromatopsiaHP:0040283 - Occasional10
HP:0007695HP:0007695Abnormal pupillary light reflex0CHRNA3 CL E G H11361957OMIM:191800URINARY BLADDER, ATONY OF4
HP:0007695HP:0007695Abnormal pupillary light reflex0CNGA3 CL E G H12612150ORPHA:49382AchromatopsiaHP:0040283 - Occasional82
HP:0007695HP:0007695Abnormal pupillary light reflex0CNGB3 CL E G H547142153ORPHA:49382AchromatopsiaHP:0040283 - Occasional194
HP:0007695HP:0007695Abnormal pupillary light reflex0COL18A1 CL E G H807812195OMIM:267750Knobloch syndrome 1177
HP:0007695HP:0007695Abnormal pupillary light reflex0COLQ CL E G H82922226ORPHA:98915Synaptic congenital myasthenic syndromes90
HP:0007695HP:0007695Abnormal pupillary light reflex0GALC CL E G H25814115ORPHA:206436Infantile Krabbe disease160
HP:0007695HP:0007695Abnormal pupillary light reflex0GNAT2 CL E G H27804394ORPHA:49382AchromatopsiaHP:0040283 - Occasional19
HP:0007695HP:0007695Abnormal pupillary light reflex0LAMB2 CL E G H39136487ORPHA:98915Synaptic congenital myasthenic syndromes92
HP:0007695HP:0007695Abnormal pupillary light reflex0LCA5 CL E G H16769131923ORPHA:364055Severe early-childhood-onset retinal dystrophyHP:0040282 - Frequent70
HP:0007695HP:0007695Abnormal pupillary light reflex0LRAT CL E G H92276685ORPHA:364055Severe early-childhood-onset retinal dystrophyHP:0040282 - Frequent62
HP:0007695HP:0007695Abnormal pupillary light reflex0MPZ CL E G H43597225OMIM:607736Charcot-Marie-Tooth disease, type 2J134
HP:0007695HP:0007695Abnormal pupillary light reflex0PDE6C CL E G H51468787ORPHA:49382AchromatopsiaHP:0040283 - Occasional80
HP:0007695HP:0007695Abnormal pupillary light reflex0PDE6H CL E G H51498790ORPHA:49382AchromatopsiaHP:0040283 - Occasional14
HP:0007695HP:0007695Abnormal pupillary light reflex0PMP22 CL E G H53769118ORPHA:90658Charcot-Marie-Tooth disease type 1E79
HP:0007695HP:0007695Abnormal pupillary light reflex0PRPS1 CL E G H56319462ORPHA:423479X-linked intellectual disability-limb spasticity-retinal dystrophy-diabetes insipidus syndrome49
HP:0007695HP:0007695Abnormal pupillary light reflex0PSAP CL E G H56609498ORPHA:206436Infantile Krabbe disease81
HP:0007695HP:0007695Abnormal pupillary light reflex0RPE65 CL E G H612110294ORPHA:364055Severe early-childhood-onset retinal dystrophyHP:0040282 - Frequent129
HP:0007695HP:0007695Abnormal pupillary light reflex0RPGR CL E G H610310295ORPHA:49382AchromatopsiaHP:0040283 - Occasional200
HP:0007695HP:0007695Abnormal pupillary light reflex0SH3TC2 CL E G H7962829427ORPHA:99949Charcot-Marie-Tooth disease type 4CHP:0040283 - Occasional493
HP:0007695HP:0007695Abnormal pupillary light reflex0SH3TC2 CL E G H7962829427OMIM:601596Charcot-Marie-Tooth disease, type 4C.493
HP:0007695HP:0007695Abnormal pupillary light reflex0SPATA7 CL E G H5581220423ORPHA:364055Severe early-childhood-onset retinal dystrophyHP:0040282 - Frequent48
HP:0007695HP:0007695Abnormal pupillary light reflex0TULP1 CL E G H728712423OMIM:613843Leber congenital amaurosis 1566
HP:0007695HP:0030211Slow pupillary light response1CHRNA3 CL E G H11361957OMIM:191800URINARY BLADDER, ATONY OF4
HP:0007695HP:0030211Slow pupillary light response1COL18A1 CL E G H807812195OMIM:267750Knobloch syndrome 1177
HP:0007695HP:0030211Slow pupillary light response1COLQ CL E G H82922226ORPHA:98915Synaptic congenital myasthenic syndromesHP:0040283 - Occasional90
HP:0007695HP:0030211Slow pupillary light response1GALC CL E G H25814115ORPHA:206436Infantile Krabbe diseaseHP:0040283 - Occasional160
HP:0007695HP:0030211Slow pupillary light response1LAMB2 CL E G H39136487ORPHA:98915Synaptic congenital myasthenic syndromesHP:0040283 - Occasional92
HP:0007695HP:0030211Slow pupillary light response1MPZ CL E G H43597225OMIM:607736Charcot-Marie-Tooth disease, type 2J134
HP:0007695HP:0030211Slow pupillary light response1PMP22 CL E G H53769118ORPHA:90658Charcot-Marie-Tooth disease type 1EHP:0040282 - Frequent79
HP:0007695HP:0030211Slow pupillary light response1PRPS1 CL E G H56319462ORPHA:423479X-linked intellectual disability-limb spasticity-retinal dystrophy-diabetes insipidus syndromeHP:0040282 - Frequent49
HP:0007695HP:0030211Slow pupillary light response1PSAP CL E G H56609498ORPHA:206436Infantile Krabbe diseaseHP:0040283 - Occasional81
HP:0007695HP:0030211Slow pupillary light response1TULP1 CL E G H728712423OMIM:613843Leber congenital amaurosis 15.66


Genes (22) :ATF6 CHRNA3 CNGA3 CNGB3 COL18A1 COLQ GALC GNAT2 LAMB2 LCA5 LRAT MPZ PDE6C PDE6H PMP22 PRPS1 PSAP RPE65 RPGR SH3TC2 SPATA7 TULP1

Diseases (12) :ORPHA:49382 OMIM:191800 OMIM:267750 ORPHA:98915 ORPHA:206436 ORPHA:364055 OMIM:607736 ORPHA:90658 ORPHA:423479 ORPHA:99949 OMIM:601596 OMIM:613843
 

Human Phenotype Ontology(HPO) is developed by the Human Phenotype Ontology Consortium. The version used here is December 15 2022 release.